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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

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0 Published in 2019 at "Molecular Brain"

DOI: 10.1186/s13041-019-0509-5

Abstract: Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using… read more here.

Keywords: pathogenic cav3; cav3 channel; child; generalized epilepsy ... See more keywords